Canonical Allele Identifier: CA394563779

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329696
• gnomAD v4: 16-3736742-C-A
• MyVariant Identifiers: chr16:g.3786743C>A (hg19) ; chr16:g.3736742C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736742C>A , CM000678.2:g.3736742C>A	GRCh38
NC_000016.9:g.3786743C>A , CM000678.1:g.3786743C>A	GRCh37
NC_000016.8:g.3726744C>A	NCBI36
NG_009873.1:g.148379G>T
NG_009873.2:g.148972G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4468G>T MANE Select	ENSP00000262367.5:p.Asp1490Tyr
ENST00000262367.9:c.4468G>T	ENSP00000262367.5:p.Asp1490Tyr
ENST00000382070.7:c.4354G>T	ENSP00000371502.3:p.Asp1452Tyr
ENST00000570939.2:c.3103G>T	ENSP00000461002.2:p.Asp1035Tyr
ENST00000571763.5:n.258G>T
ENST00000574740.1:n.289G>T
ENST00000576720.1:n.3291G>T
NM_001079846.1:c.4354G>T	NP_001073315.1:p.Asp1452Tyr
NM_004380.2:c.4468G>T	NP_004371.2:p.Asp1490Tyr
XM_005255124.3:c.4423G>T	XP_005255181.1:p.Asp1475Tyr
XM_005255125.3:c.4051G>T	XP_005255182.1:p.Asp1351Tyr
XM_006720848.2:c.4207G>T	XP_006720911.1:p.Asp1403Tyr
XM_011522380.1:c.4414G>T	XP_011520682.1:p.Asp1472Tyr
XM_011522381.1:c.3715G>T	XP_011520683.1:p.Asp1239Tyr
XM_005255124.4:c.4423G>T	XP_005255181.1:p.Asp1475Tyr
XM_005255125.4:c.4051G>T	XP_005255182.1:p.Asp1351Tyr
XM_006720848.3:c.4207G>T	XP_006720911.1:p.Asp1403Tyr
XM_011522381.2:c.3715G>T	XP_011520683.1:p.Asp1239Tyr
XM_017022944.1:c.4462G>T	XP_016878433.1:p.Asp1488Tyr
NM_004380.3:c.4468G>T MANE Select	NP_004371.2:p.Asp1490Tyr